Article
Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.
Molecular neurobiology - 1 Aug 2018
Gridina Maria M, Matveeva Natalia M, Fishman Veniamin S, Menzorov Aleksei G, Kizilova Helen A, Beregovoy Nikolay A, Kovrigin Igor I, Pristyazhnyuk Inna E, Oscorbin Igor P, Filipenko Maxim L, Kashevarova Anna A, Skryabin Nikolay A, Nikitina Tatyana V, Sazhenova Elena A, Nazarenko Ludmila P, Lebedev Igor N, Serov Oleg L
Abstract excerpt
Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human...
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